{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["108(10)"],"submitter":["Caputo SM"],"pubmed_abstract":["Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs. The classification method was a multifactorial model combining different associations between VUSs and cancer, including cosegregation data. At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUS"],"journal":["American journal of human genetics"],"pagination":["1907-1923"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8546044"],"repository":["biostudies-literature"],"pubmed_title":["Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach."],"pmcid":["PMC8546044"],"pubmed_authors":["Jacquot-Sawka C","Nguyen Minh Tuan TV","Blanluet M","Ingster O","Menjard J","Cohen-Haguenauer O","Warcoin M","Benigni C","Mouret-Fourme E","Raad S","Berthemin C","Leone M","Fert-Ferrer S","Le Guyadec G","Berthet P","Revillion F","Bloucard A","Crivelli L","Moretta-Serra J","Delnatte C","Cabaret O","Allary AS","Coulet F","Durlach A","Le Mentec M","Conoy AL","Sevenet N","Villy MC","Toulas C","Dehainault C","Caron O","Guillaud-Bataille M","Longy M","Lortholary A","Lallaoui H","Fajac A","Privat M","Popovici C","Oca F","Garrec C","Boulouard F","Bressac de Paillerets B","Meira C","Tennevet I","Bonnet F","Moliere D","Bombled J","Airaud F","Chieze-Valero S","Maugard C","Hardouin A","Bouras A","Collonge-Rame MA","Coupier I","Tinat J","Yvard A","Birot AM","Margot H","Lizard S","Salle L","Saule C","Krieger S","Lejeune S","Barouk-Simonet E","Venat L","Fekairi S","Goussot V","Buecher B","Bronnec N","Cohen C","Lauge A","Suybeng V","Turbiez I","Bignon YJ","Vaur D","Benusiglio PR","Sobol H","Viellard N","d'Enghein CD","Mari V","Lasset C","Guy C","Bourdon V","Brayotel F","Carriere J","Lacoste S","Prieur F","Basset N","Moncoutier V","Larbre H","Lidereau R","Derive N","Bonadona V","Delhomelle H","Gladieff L","Fouillet R","Golmard L","Vilquin P","Dreyfus H","Bertrand O","Boulaire M","Legros A","Doriane Livon","Bezieau S","Rey JM","Tenreiro H","Legrand C","Le Gall J","Gesta P","Chiesa J","Jones N","Nogues C","Buisson A","Devulder P","Houdayer C","Denizeau P","Uhrhammer N","Muller E","Guillerm E","Bidart M","Noguchi T","Giraud S","Guibert V","Rouleau E","Remenieras A","Neviere Z","Abidallah K","Caputo SM","Demontety S","Cusin V","Malsa S","Goldbarg V","Dupre A","Lignon N","Castera L","Bonnet-Dupeyron MN","Ricou A","Bubien V","Zattara H","Boutry-Kryza N","Abadie C","Heude C","Legendre B","Dussart S","Schwartz M","Fievet A","De Pauw A","Mailliez A","Belotti M","Macquere P","Lecerf C","Vande Perre P","Damiola F","Brahimi A","Gay-Bellile M","Stoppa-Lyonnet D","Simaga F","Colas C","Limacher JM","Gauthier-Villars M"],"additional_accession":[]},"is_claimable":false,"name":"Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.","description":"Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs. The classification method was a multifactorial model combining different associations between VUSs and cancer, including cosegregation data. At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUS","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Oct","modification":"2026-04-08T18:11:03.958Z","creation":"2025-04-05T22:19:53.53Z"},"accession":"S-EPMC8546044","cross_references":{"pubmed":["34597585"],"doi":["10.1016/j.ajhg.2021.09.003"]}}